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Items: 1 to 20 of 56

1.
Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi, Christian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Sheraz Khan, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Ayça Dilruba Aslanger, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino
Brain. 2023 Dec; 146(12): 5031–5043. Published online 2023 Jul 30. doi: 10.1093/brain/awad257
PMCID:
PMC10690011
2.
Sara A. Lewis, Somayeh Bakhtiari, Jacob Forstrom, Allan Bayat, Frédéric Bilan, Gwenaël Le Guyader, Ebba Alkhunaizi, Hilary Vernon, Sergio R. Padilla-Lopez, Michael C. Kruer
Dis Model Mech. 2023 Sep 1; 16(9): dmm049838. Published online 2023 Sep 26. doi: 10.1242/dmm.049838
PMCID:
PMC10548112
3.
Virgilio E. Failoc-Rojas, Piero A. Quiroz Ugaz, Dante A. Loconi León, Sandra Zeña-Ñañez
BMC Pediatr. 2023; 23: 374. Published online 2023 Jul 24. doi: 10.1186/s12887-023-04166-z
PMCID:
PMC10364348
4.
Alejandro Parra, Rachel Rabin, John Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Ozlem Akgun-Dogan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, Maria Juliana Ballesta-Martinez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, Spanish OverGrowth Registry Initiative, Jair Tenorio-Castano, Pablo Lapunzina
Genes (Basel) 2023 Jun; 14(6): 1179. Published online 2023 May 29. doi: 10.3390/genes14061179
PMCID:
PMC10297832
5.
Schaida Schirwani, Emily Woods, David A. Koolen, Charlotte W. Ockeloen, Sally Ann Lynch, Karl Kavanagh, John M. Graham, Jr, Katheryn Grand, Tyler Mark Pierson, Jeffrey M. Chung, Meena Balasubramanian
Am J Med Genet A. 2023 Jan; 191(1): 29–36. Published online 2022 Sep 29. doi: 10.1002/ajmg.a.62981
PMCID:
PMC10087684
6.
Andreas Hentschel, Nancy Meyer, Nicolai Kohlschmidt, Claudia Groß, Albert Sickmann, Ulrike Schara-Schmidt, Fabian Förster, Ana Töpf, Jon Christiansen, Rita Horvath, Matthias Vorgerd, Rachel Thompson, Kiran Polavarapu, Hanns Lochmüller, Corinna Preusse, Luis Hannappel, Anne Schänzer, Anika Grüneboom, Andrea Gangfuß, Andreas Roos
Mol Neurobiol. 2023; 60(5): 2602–2618. Published online 2023 Jan 24. doi: 10.1007/s12035-023-03219-9
PMCID:
PMC10039818
7.
Weiqian Dai, Yu Sun, Yanjie Fan, Yan Gao, Yongkun Zhan, Lili Wang, Bing Xiao, Wenjuan Qiu, Xuefan Gu, Kun Sun, Yongguo Yu, Na Xu
Eur J Hum Genet. 2023 Jan; 31(1): 112–121. Published online 2022 Nov 14. doi: 10.1038/s41431-022-01217-4
PMCID:
PMC9822978
8.
Hadia Hijazi, Linda M. Reis, Davut Pehlivan, Jonathan A. Bernstein, Michael Muriello, Erin Syverson, Devon Bonner, Mehrdad A. Estiar, Ziv Gan-Or, Guy A. Rouleau, Ekaterina Lyulcheva, Lynn Greenhalgh, Marine Tessarech, Estelle Colin, Agnès Guichet, Dominique Bonneau, R.H. van Jaarsveld, A.M.A. Lachmeijer, Lyse Ruaud, Jonathan Levy, Anne-Claude Tabet, Rafal Ploski, Małgorzata Rydzanicz, Łukasz Kępczyński, Katarzyna Połatyńska, Yidan Li, Jawid M. Fatih, Dana Marafi, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Weimin Bi, Richard A. Gibbs, Grace M. Hobson, Jill V. Hunter, Claudia M.B. Carvalho, Jennifer E. Posey, Elena V. Semina, James R. Lupski
Am J Hum Genet. 2022 Dec 1; 109(12): 2270–2282. Published online 2022 Nov 10. doi: 10.1016/j.ajhg.2022.10.007
PMCID:
PMC9748253
9.
Ferruccio Romano, Mariateresa Falco, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Fortunato Lonardo, Annalaura Torella, Maria Cristina Digilio, Maria Lisa Dentici, Paolo Alfieri, Emanuele Agolini, Antonio Novelli, Livia Garavelli, Andrea Accogli, TUDP, Pasquale Striano, Gioacchino Scarano, Vincenzo Nigro, Marcello Scala, Valeria Capra
Birth Defects Res. 2022 Aug 1; 114(13): 759–767. Published online 2022 Jun 18. doi: 10.1002/bdr2.2058
PMCID:
PMC9545659
10.
Daniel Halperin, Nadav Agam, Maher Hallak, Miora Feinstein, Max Drabkin, Yuval Yogev, Ohad Wormser, Eitan Shavit, Libe Gradstein, Ilan Shelef, Aanalia Mijalovsky, Hagit Flusser, Ohad S. Birk
Clin Genet. 2022 Aug; 102(2): 123–129. Published online 2022 May 5. doi: 10.1111/cge.14143
PMCID:
PMC9545274
11.
Luciana Musante, Flavio Faletra, Kolja Meier, Hoda Tomoum, Paria Najarzadeh Torbati, Edward Blair, Sally North, Jutta Gärtner, Susann Diegmann, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Ehsan Ghayoor Karimiani, David Murphy, Flora Maria Murru, Caterina Zanus, Andrea Magnolato, Martina La Bianca, Agnese Feresin, Giorgia Girotto, Paolo Gasparini, Paola Costa, Marco Carrozzi
Am J Med Genet A. 2022 Sep; 188(9): 2652–2665. Published online 2022 Jun 7. doi: 10.1002/ajmg.a.62852
PMCID:
PMC9541101
12.
Mirella Vinci, Petri Kursula, Donatella Greco, Maurizio Elia, Luigi Vetri, Carmelo Schepis, Valeria Chiavetta, Serena Donadio, Michele Roccella, Marco Carotenuto, Valentino Romano, Francesco Calì
Mol Genet Genomic Med. 2022 Sep; 10(9): e2012. Published online 2022 Jul 5. doi: 10.1002/mgg3.2012
PMCID:
PMC9482394
13.
Marcello Scala, Masashi Nishikawa, Hidenori Ito, Hidenori Tabata, Tayyaba Khan, Andrea Accogli, Laura Davids, Anna Ruiz, Pietro Chiurazzi, Gabriella Cericola, Björn Schulte, Kristin G Monaghan, Amber Begtrup, Annalaura Torella, Michele Pinelli, Anne Sophie Denommé-Pichon, Antonio Vitobello, Caroline Racine, Maria Margherita Mancardi, Courtney Kiss, Andrea Guerin, Wendy Wu, Elisabeth Gabau Vila, Bryan C Mak, Julian A Martinez-Agosto, Michael B Gorin, Bugrahan Duz, Yavuz Bayram, Claudia M B Carvalho, Jaime E Vengoechea, David Chitayat, Tiong Yang Tan, Bert Callewaert, Bernd Kruse, Lynne M Bird, Laurence Faivre, Marcella Zollino, Saskia Biskup, Undiagnosed Diseases Network , Telethon Undiagnosed Diseases Program , Pasquale Striano, Vincenzo Nigro, Mariasavina Severino, Valeria Capra, Gregory Costain, Koh ichi Nagata
Brain. 2022 Sep; 145(9): 3308–3327. Published online 2022 Jul 4. doi: 10.1093/brain/awac106
PMCID:
PMC9473360
14.
Eline A. Verberne, Liselot van der Laan, Sadegheh Haghshenas, Kathleen Rooney, Michael A. Levy, Mariëlle Alders, Saskia M. Maas, Sandra Jansen, Agne Lieden, Britt-Marie Anderlid, Louise Rafael-Croes, Philippe M. Campeau, Ayeshah Chaudhry, David A. Koolen, Rolph Pfundt, Anna C. E. Hurst, Frederic Tran-Mau-Them, Ange-Line Bruel, Laetitia Lambert, Bertrand Isidor, Marcel M. A. M. Mannens, Bekim Sadikovic, Peter Henneman, Mieke M. van Haelst
Int J Mol Sci. 2022 Jul; 23(14): 8001. Published online 2022 Jul 20. doi: 10.3390/ijms23148001
PMCID:
PMC9322505
15.
Shinsuke Mizuno, Koji Yokoyama, Atsushi Yokoyama, Takayuki Nukata, Yuka Ikeda, Shigeto Hara
Mol Genet Genomic Med. 2022 Jun; 10(6): e1932. Published online 2022 Mar 28. doi: 10.1002/mgg3.1932
PMCID:
PMC9184671
16.
Anne Slavotinek, Mathilde Lefebvre, Anne-Claire Brehin, Christel Thauvin, Sophie Patrier, Teresa N. Sparks, Mary Norton, Jingwei Yu, Eric Huang
Eur J Med Genet.
Published in final edited form as: Eur J Med Genet. 2022 Feb; 65(2): 104407. Published online 2021 Dec 20. doi: 10.1016/j.ejmg.2021.104407
PMCID:
PMC9162882
17.
RaeLynn Forsyth, Melissa A. Parisi, Burak Altintas, May Christine Malicdan, Thierry Vilboux, Jasmine Knoll, Brian P. Brooks, Wadih M. Zein, William A. Gahl, Camilo Toro, Meral Gunay-Aygun
Am J Med Genet C Semin Med Genet.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2022 Mar; 190(1): 121–130. Published online 2022 Mar 21. doi: 10.1002/ajmg.c.31966
PMCID:
PMC9117497
18.
Meysam Mosallaei, Naeim Ehtesham, Maryam Beheshtian, Shahrouz Khoshbakht, Behzad Davarnia, Kimia Kahrizi, Hossein Najmabadi
Mol Genet Genomic Med. 2022 Apr; 10(4): e1894. Published online 2022 Feb 17. doi: 10.1002/mgg3.1894
PMCID:
PMC9000939
19.
Virginia Miraldi Utz, Diana S. Brightman, Monica A. Sandoval, Robert B. Hufnagel, Howard M. Saal
Am J Med Genet C Semin Med Genet.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2020 Sep; 184(3): 644–655. Published online 2020 Sep 5. doi: 10.1002/ajmg.c.31839
PMCID:
PMC8808370
20.
Wolfgang Briegel
Int J Environ Res Public Health. 2021 Nov; 18(22): 12064. Published online 2021 Nov 17. doi: 10.3390/ijerph182212064
PMCID:
PMC8619815

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